NEUROMUSCULAR DISEASES

This study is testing a new oral medicine called SAT-3247 for boys aged 7 to under 10 who have Duchenne Muscular Dystrophy (DMD) and can still walk. The main goals are to find a safe and well-tolerated dose and to see if the medicine can help improve muscle strength and function.…

This study is testing whether a simple home sleep monitor can help doctors check if a nighttime breathing machine is working properly for adults with muscle-weakening diseases. Researchers want to see if the monitor provides clear data that can be used to adjust the machine's set…

This program provides access to an investigational drug called AOC 1044 for eligible patients with Duchenne muscular dystrophy (DMD) who have a specific genetic mutation (amenable to exon 44 skipping). It is for patients aged 6 and older who are living in the US, including those …

This study is testing a new device called the pneuRIP that monitors breathing without being invasive. It uses soft bands around the chest and belly to measure breathing patterns wirelessly. Researchers are comparing this new device to an older system in 10 healthy children and 10…

This study is testing whether using a special breathing device can help slow the decline of cough strength in people with early-stage ALS. Twenty participants will use the device twice daily for six months to perform deep breathing exercises. Researchers will compare their cough …

This study is testing a brain implant system designed to help people with 'locked-in syndrome' communicate. Participants, who are fully conscious but severely paralyzed, will have a small device placed on their brain's surface. The goal is to see if they can learn to control a co…

This study is testing a new, radiation-free imaging system called EIT to see how well it can show lung function in people with breathing problems. Researchers will use it on children and adults with conditions like chronic lung disease or muscle weakness, as well as healthy volun…

This study aims to learn more about how a rare, inherited nerve disease called Charcot-Marie-Tooth type 4J (CMT4J) changes over time. It will follow 20 people of any age with a confirmed genetic diagnosis for up to two years, checking in annually with exams and tests. The goal is…

This study aims to measure how much effort it takes for children with muscle or lung diseases to breathe. Researchers will use a small tube to measure pressures in the chest and stomach of up to 550 children. The goal is to better understand their breathing difficulties to help g…

This study aims to better understand how two specific genetic forms of hereditary spastic paraplegia (HSP) progress over time. Researchers will enroll 100 people with confirmed SPG4 or SPG5A HSP to collect detailed health information and blood samples. The goal is to build a rese…

This study aims to better understand how neuromuscular diseases affect daily life by measuring physical activity. Participants, including both people with these diseases and healthy volunteers, will wear a small, button-like monitor on their thigh for one week every six months ov…